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Article

Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy.

Nature genetics - 1 Jun 1997

Irvine A D, Corden L D, Swensson O, Swensson B, Moore J E, Frazer D G, Smith F J, Knowlton R G, Christophers E, Rochels R, Uitto J, McLean W H

Abstract excerpt

The intermediate filament cytoskeleton of corneal epithelial cells is composed of cornea-specific keratins K3 and K12 (refs 1,2). Meesmann's corneal dystrophy (MCD) is an autosomal dominant disorder causing fragility of the anterior corneal epithelium, where K3 and K12 are specifically expressed. We postulated that dominant-negative mutations in these keratins might be the cause of MCD. K3 was mapped to the...

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PMID: 9171831
DOI: 10.1038/ng0697-184

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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